Variant report

Variant	esv3473891
Chromosome Location	chr6:30993939-30995166
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30991705..30994740-chr6:30996173..30998795,3	K562	blood:
2	chr6:30989389..30991180-chr6:30994181..30996114,2	K562	blood:
3	chr6:30992182..30995323-chr6:30998811..31002073,3	K562	blood:
4	chr6:30992875..30996671-chr6:31006000..31008963,4	K562	blood:

Extended variants
information (count: 98 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114609447	chr6:30993954-30993955	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2523897	chr6:30993958-30993959	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
3	rs201637070	chr6:30994010-30994011	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376061346	chr6:30994023-30994024	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552487972	chr6:30994024-30994025	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570804301	chr6:30994025-30994026	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534992021	chr6:30994026-30994027	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62399432	chr6:30994042-30994043	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72847018	chr6:30994052-30994053	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62399433	chr6:30994053-30994054	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62399434	chr6:30994055-30994056	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62399435	chr6:30994059-30994060	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62399436	chr6:30994067-30994068	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62399437	chr6:30994072-30994073	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62399438	chr6:30994077-30994078	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62399439	chr6:30994081-30994082	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62399440	chr6:30994090-30994091	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111426406	chr6:30994109-30994110	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185924691	chr6:30994114-30994115	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190548696	chr6:30994152-30994153	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182397327	chr6:30994163-30994164	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185985848	chr6:30994183-30994184	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558027735	chr6:30994184-30994185	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573230928	chr6:30994203-30994204	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540986336	chr6:30994206-30994207	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559107869	chr6:30994215-30994216	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116938859	chr6:30994232-30994233	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28360987	chr6:30994253-30994254	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371288197	chr6:30994259-30994260	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6928038	chr6:30994283-30994284	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs199740443	chr6:30994298-30994299	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114550954	chr6:30994327-30994328	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572057035	chr6:30994329-30994330	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528393416	chr6:30994341-30994342	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200917258	chr6:30994355-30994356	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201856601	chr6:30994365-30994366	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138073256	chr6:30994370-30994371	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6928386	chr6:30994412-30994413	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs141088024	chr6:30994424-30994425	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142278058	chr6:30994427-30994428	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369388098	chr6:30994431-30994432	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373121807	chr6:30994437-30994438	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116633440	chr6:30994470-30994471	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9468859	chr6:30994483-30994484	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs114673429	chr6:30994532-30994533	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573171602	chr6:30994540-30994541	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546686317	chr6:30994563-30994564	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552891903	chr6:30994588-30994589	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574342270	chr6:30994591-30994592	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200765222	chr6:30994610-30994611	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Breast cancer	21364760	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30972600-30997600	Weak transcription	Right Atrium	heart
2	chr6:30993400-30997800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:30994800-30995000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin

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